Novel SNP array analysis and exome sequencing detect a homozygous exon 7 deletion of MEGF10 causing early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD)

Early-onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD) is a myopathic disorder associated with mutations in MEGF10. By novel analysis of SNP array hybridization and exome sequence coverage, we diagnosed a 10-year old girl with EMARDD following identification of a novel homozygo...

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Päätekijät: Pierson, Tyler Mark, Markello, Thomas, Accardi, John, Wolfe, Lynne, Adams, David, Sincan, Murat, Tarazi, Noor M., Fajardo, Karin Fuentes, Cherukuri, Praveen F., Bajraktari, Ilda, Meilleur, Katy G., Donkervoort, Sandra, Jain, Mina, Hu, Ying, Lehky, Tanya J., Cruz, Pedro, Mullikin, James C., Bonnemann, Carsten, Gahl, William A., Boerkoel, Cornelius F., Tifft, Cynthia J.
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: 2013
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Article
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC3940074/
https://ncbi.nlm.nih.gov/pubmed/23453856
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.nmd.2013.01.013
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